A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422



Internal ID15203544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104777652..104822194hg38UCSC Ensembl
Outerchr6:105225527..105270069hg19UCSC Ensembl
Outerchr6:105332220..105376762hg18UCSC Ensembl
Outerchr6:105332220..105376762hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3844543
hg1944543
hg1844543
hg1744543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4936
SamplesNA19129
Known GenesHACE1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv5422
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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